使用givosiran生化指标正常化后急性间歇性卟啉症的复发症状——一个持续存在的临床难题。
Recurrent symptoms of acute intermittent porphyria after biochemical normalization with givosiran-An ongoing clinical conundrum.
作者信息
Ma Christopher D, Faust Denise, Bonkovsky Herbert L
机构信息
Department of Internal Medicine, Section on Gastroenterology and Hepatology Wake Forest University School of Medicine Winston-Salem North Carolina USA.
出版信息
JIMD Rep. 2022 Dec 13;64(2):146-149. doi: 10.1002/jmd2.12354. eCollection 2023 Mar.
Abstract
A 47-year-old woman with acute intermittent porphyria (AIP) has had recurring symptoms after achieving biochemical normalization of her urinary 5-aminolevulinic acid (ALA), porphobilinogen (PBG), and total porphyrins with givosiran. She has had normal liver tests, mildly decreased renal function, and sustained normal urinary ALA, PBG, and porphyrins with no rebound in her laboratory test results throughout treatment. She continues to tolerate monthly givosiran injections with no adverse effects, but she still experiences what she believes are acute porphyric attacks every 1-2 months.
摘要
一名47岁的急性间歇性卟啉病（AIP）女性患者，在使用givosiran使尿中5-氨基酮戊酸（ALA）、卟胆原（PBG）和总卟啉生化指标恢复正常后，症状仍反复出现。她的肝功能检查正常，肾功能轻度下降，在整个治疗过程中，尿ALA、PBG和卟啉持续正常，实验室检查结果无反弹。她继续耐受每月一次的givosiran注射，无不良反应，但她仍每1-2个月经历一次她认为的急性卟啉病发作。
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